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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive nonsyndromic deafness 21
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Accession:DOID:0110479 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: DEAFNESS, NEUROSENSORY AUTOSOMAL RECESSIVE 21;   DFNB21;   autosomal recessive deafness 21
 broad_synonym: TECTA-RELATED CONDITION
 primary_id: MESH:C566353;   RDO:0014731
 alt_id: OMIM:603629


show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 626
            autosomal recessive nonsyndromic deafness 142
              autosomal recessive nonsyndromic deafness 21 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            Otorhinolaryngologic Diseases 1741
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal recessive nonsyndromic deafness 142
                          autosomal recessive nonsyndromic deafness 21 1
paths to the root